view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAZF1_chr7_27825577_28185795 | 27909002 | T | TCATTCAT others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0155 a0001c0001t0001g0164 others(1): Show |
4 | 23 | 0.1739 | 9 | c.189 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28048972 | C | CCCTTCCC others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00735.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(32): Show |
35 | 202 | 0.1733 | 9 | c.116 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28092290 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03098.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 others(2): Show |
5 | 37 | 0.1351 | 9 | c.115 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03225.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0133 others(1): Show |
4 | 156 | 0.0256 | 9 | c.115 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JCAD_chr10_30007803_30064586 | 30034222 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03239.hp1 HG03831.hp1 others(6): Show |
a0001a0003 | a0001c0005a0001c0019a0003c0051 | a0001c0005t0002a0001c0005t0034a0001c0005t0038others(5): Show | a0001c0005t0002g0129 a0001c0005t0034g0078 a0001c0005t0038g0338 others(6): Show |
9 | 351 | 0.0256 | 9 | c.282 others(26): Show |
JCAD | ENSG00000165757.9 | transcript | ENST00000375377.2 | protein_coding | 2/3 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63234493 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp1 others(6): Show |
a0003a0005a0012 | a0003c0003a0005c0005a0012c0014 | a0003c0003t0001a0005c0005t0001a0012c0014t0001 | a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0184 others(6): Show |
9 | 145 | 0.0621 | 9 | c.448 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63238189 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(100): Show |
a0002a0007a0009others(5): Show | a0002c0002a0002c0021a0002c0024others(11): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(13): Show | a0002c0002t0001g0118 a0002c0002t0001g0148 a0002c0002t0001g0157 others(100): Show |
103 | 232 | 0.4440 | 9 | c.448 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63245478 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00621.hp1 others(9): Show |
a0003a0004a0008 | a0003c0003a0004c0004a0008c0009 | a0003c0003t0001a0004c0004t0002a0008c0009t0001 | a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0171 others(9): Show |
12 | 48 | 0.2500 | 9 | c.447 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63276884 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0031others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0152 a0001c0008t0001g0299 a0001c0008t0001g0300 others(24): Show |
27 | 99 | 0.2727 | 9 | c.334 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63277731 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02071.hp2 HG02109.hp2 others(11): Show |
a0001a0003a0005others(1): Show | a0001c0008a0001c0010a0003c0003others(2): Show | a0001c0008t0001a0001c0010t0001a0003c0003t0001others(2): Show | a0001c0008t0001g0299 a0001c0008t0001g0301 a0001c0010t0001g0307 others(11): Show |
14 | 81 | 0.1728 | 9 | c.334 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63349100 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01192.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0120 others(3): Show |
6 | 66 | 0.0909 | 9 | c.333 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63466139 | A | AGGCGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02027.hp2 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0284 |
3 | 193 | 0.0155 | 9 | c.-48 others(18): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 163 | chr10 | TogoVar | |||||||
JMJD6_chr17_76713451_76731606 | 76728412 | A | ATTTGTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show |
6 | 420 | 0.0143 | 9 | c.-19 others(20): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 1807 | chr17 | TogoVar | |||||||
JOSD1_chr22_38680543_38705943 | 38703645 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 a0001c0001t0002g0125 a0001c0001t0002g0126 others(3): Show |
6 | 163 | 0.0368 | 9 | c.-34 others(20): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 2703 | chr22 | TogoVar | |||||||
JOSD2_chr19_50500998_50516191 | 50510051 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(141): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0015 others(56): Show |
144 | 225 | 0.6400 | 9 | c.146 others(24): Show |
JOSD2 | ENSG00000161677.12 | transcript | ENST00000598418.6 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134321 | A | ATAAAATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02040.hp1 others(2): Show |
a0001a0002 | a0001c0006a0001c0014a0002c0002others(1): Show | a0001c0006t0021a0001c0014t0029a0002c0002t0004others(2): Show | a0001c0006t0021g0253 a0001c0014t0029g0268 a0002c0002t0004g0232 others(2): Show |
5 | 332 | 0.0151 | 9 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87602545 | G | GCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01496.hp2 HG01975.hp1 HG02015.hp1 others(7): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0006a0001c0001t0038a0001c0002t0006others(5): Show | a0001c0001t0006g0159 a0001c0001t0038g0157 a0001c0002t0006g0155 others(7): Show |
10 | 377 | 0.0265 | 9 | c.-60 others(18): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/5 | 599 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87604287 | C | CCTGCTGC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00735.hp1 others(15): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0028others(10): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 others(15): Show |
18 | 211 | 0.0853 | 9 | c.382 others(24): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87638624 | T | TGGGGAGT others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03209.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0016a0001c0039 | a0001c0016t0001a0001c0039t0001 | a0001c0016t0001g0011 a0001c0016t0001g0238 a0001c0016t0001g0330 others(1): Show |
4 | 378 | 0.0106 | 9 | c.383 others(26): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPT2_chr16_1673279_1707086 | 1703135 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0022g0020 |
7 | 319 | 0.0219 | 9 | c.*41 others(20): Show |
JPT2 | ENSG00000206053.13 | transcript | ENST00000248098.8 | protein_coding | 1050 | chr16 | TogoVar | |||||||
JSRP1_chr19_2247252_2261417 | 2259312 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00642.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0057 others(9): Show |
28 | 221 | 0.1267 | 9 | c.-29 others(20): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2896 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02145.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0004g0000 |
5 | 192 | 0.0260 | 9 | c.-30 others(20): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124044905 | C | CCTTCCTT others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0028 a0001c0008t0004g0029 |
2 | 21 | 0.0952 | 9 | c.73+ others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124069311 | T | TAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03471.hp1 |
a0001 | a0001c0020a0001c0021 | a0001c0020t0008a0001c0021t0001 | a0001c0020t0008g0083 a0001c0021t0001g0087 |
2 | 10 | 0.2000 | 9 | c.73+ others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124294520 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02109.hp1 HG02129.hp1 others(2): Show |
a0001 | a0001c0023a0001c0025a0001c0034others(2): Show | a0001c0023t0018a0001c0025t0001a0001c0034t0001others(2): Show | a0001c0023t0018g0045 a0001c0025t0001g0048 a0001c0034t0001g0037 others(2): Show |
5 | 46 | 0.1087 | 9 | c.970 others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124404153 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02071.hp2 HG02145.hp1 others(5): Show |
a0001a0005 | a0001c0008a0001c0009a0001c0034others(3): Show | a0001c0008t0002a0001c0009t0001a0001c0034t0001others(3): Show | a0001c0008t0002g0070 a0001c0009t0001g0064 a0001c0009t0001g0069 others(5): Show |
8 | 11 | 0.7273 | 9 | c.234 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 13/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124605584 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02055.hp2 NA18906.hp2 |
a0001 | a0001c0047a0001c0049a0001c0069 | a0001c0047t0009a0001c0049t0001a0001c0069t0022 | a0001c0047t0009g0092 a0001c0049t0001g0003 a0001c0069t0022g0101 |
3 | 73 | 0.0411 | 9 | c.518 others(30): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | chr3 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124628458 | C | CTCCTTCC others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02897.hp1 |
a0001a0007 | a0001c0026a0001c0042a0007c0052 | a0001c0026t0006a0001c0042t0003a0007c0052t0008 | a0001c0026t0006g0110 a0001c0042t0003g0108 a0007c0052t0008g0074 |
3 | 114 | 0.0263 | 9 | c.518 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 598620 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01978.hp2 HG02273.hp2 others(2): Show |
a0005a0009 | a0005c0004a0009c0006 | a0005c0004t0002a0005c0004t0005a0009c0006t0002 | a0005c0004t0002g0083 a0005c0004t0005g0109 a0005c0004t0005g0158 others(2): Show |
5 | 56 | 0.0893 | 9 | c.-83 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 635779 | A | ACCTCTGC others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00741.hp2 others(39): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0058a0002c0002others(17): Show | a0001c0001t0004a0001c0058t0004a0002c0002t0002others(20): Show | a0001c0001t0004g0227 a0001c0058t0004g0134 a0002c0002t0002g0022 others(39): Show |
42 | 252 | 0.1667 | 9 | c.-83 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 662545 | T | TTGACAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0053a0001c0054others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0040 others(230): Show |
233 | 252 | 0.9246 | 9 | c.-83 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 691611 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 HG01934.hp2 others(7): Show |
a0002a0006a0011others(3): Show | a0002c0002a0006c0031a0006c0041others(4): Show | a0002c0002t0002a0002c0002t0003a0006c0031t0002others(6): Show | a0002c0002t0002g0124 a0002c0002t0002g0165 a0002c0002t0003g0028 others(7): Show |
10 | 209 | 0.0478 | 9 | c.37+ others(26): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8325296 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02896.hp2 HG03688.hp1 others(3): Show |
a0004a0005a0007 | a0004c0004a0005c0005a0007c0024 | a0004c0004t0002a0005c0005t0003a0007c0024t0003 | a0004c0004t0002g0291 a0005c0005t0003g0071 a0005c0005t0003g0076 others(3): Show |
6 | 142 | 0.0423 | 9 | c.193 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340274 | C | CGTATATA others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG02886.hp1 others(10): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0002a0006c0006t0002 | a0004c0004t0002g0023 a0004c0004t0002g0024 a0004c0004t0002g0275 others(9): Show |
13 | 365 | 0.0356 | 9 | c.-28 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46059645 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 NA19043.hp1 |
a0002 | a0002c0003a0002c0010 | a0002c0003t0012a0002c0010t0003a0002c0010t0013 | a0002c0003t0012g0268 a0002c0010t0003g0253 a0002c0010t0013g0288 |
3 | 314 | 0.0096 | 9 | c.184 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46059647 | A | AAAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02132.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0132 a0001c0001t0002g0151 a0001c0001t0002g0153 others(10): Show |
13 | 62 | 0.2097 | 9 | c.184 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46059647 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01123.hp2 others(31): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0001c0001t0008a0002c0003t0003others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0116 others(31): Show |
34 | 83 | 0.4096 | 9 | c.184 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46135542 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01255.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024 | a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 others(5): Show |
8 | 116 | 0.0690 | 9 | c.128 others(30): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46193356 | T | TGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show |
22 | 320 | 0.0688 | 9 | c.-63 others(18): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/15 | 21214 | chr17 | TogoVar | ||||||
KASH5_chr19_49383249_49422990 | 49386790 | G | GGGGAAGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01081.hp1 others(21): Show |
a0001a0002a0009 | a0001c0006a0002c0002a0009c0013 | a0001c0006t0001a0002c0002t0001a0009c0013t0001 | a0001c0006t0001g0015 a0001c0006t0001g0079 a0001c0006t0001g0140 others(17): Show |
24 | 346 | 0.0694 | 9 | c.-16 others(20): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1458 | chr19 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20062134 | A | AACATATA others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02896.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0003 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0005t0001g0019 others(2): Show |
5 | 366 | 0.0137 | 9 | c.304 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02970.hp2 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0101 others(3): Show |
6 | 50 | 0.1200 | 9 | c.230 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 41948901 | A | ACATCATC others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01070.hp2 others(24): Show |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0001a0002c0002t0035a0003c0006t0013others(2): Show | a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 others(21): Show |
27 | 254 | 0.1063 | 9 | c.174 others(26): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 10/16 | chr8 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 41967274 | A | AAATTTAT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp2 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0007g0054 a0001c0001t0009g0093 a0001c0001t0011g0079 others(9): Show |
12 | 107 | 0.1122 | 9 | c.148 others(28): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 8/16 | chr8 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42054258 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 NA18963.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0036 | a0001c0001t0001g0053 a0001c0001t0006g0028 a0001c0001t0036g0078 |
3 | 169 | 0.0178 | 9 | c.-26 others(20): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2272 | chr8 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74830769 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02735.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0181 a0001c0001t0009g0121 |
2 | 172 | 0.0116 | 9 | c.-32 others(28): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74895361 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0001t0008a0001c0015t0002 | a0001c0001t0002g0077 a0001c0001t0002g0096 a0001c0001t0008g0076 others(1): Show |
4 | 96 | 0.0417 | 9 | c.621 others(28): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74899248 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG02083.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0004 | a0001c0001t0002g0075 a0002c0002t0001g0029 a0002c0002t0001g0135 others(5): Show |
8 | 45 | 0.1778 | 9 | c.621 others(28): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74981343 | C | CTTCCTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01433.hp1 others(13): Show |
a0001 | a0001c0001a0001c0010a0001c0014others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(13): Show |
16 | 221 | 0.0724 | 9 | c.223 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 75028901 | G | GGAAGAGG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0015 others(5): Show |
8 | 231 | 0.0346 | 9 | c.409 others(18): Show |
p.Glu others(15): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 18/18 | 4620/8314 | 4106/6222 | 1369/2073 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |